| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Gln977X |
c.2929C>T |
22 |
977 |
CRD-repeat #6 |
|
Small rearrangement |
Ts |
C->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 9743 |
---MD_GR#6 | M |
|
GR |
|
0 |
|
| p.Gln977ProfsX37 |
c.2929dup |
22 |
977 |
CRD-repeat #6 |
|
Small rearrangement |
|
Stop at 1013 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 3032 |
---MD_FR#F759286011 | M |
|
FR |
|
0 |
|